This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Accession: | NM_001101417 |
---|---|
基因名称: | ISPD |
基因别名: | Nip; MDDGA7; hCG_1745121; RP11-196O16.1 |
基因描述: | Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 2, mRNA. |
种属: | Human |
CDS区长度: | 1206 (查看编码区序列) |
翻译后氨基酸长度: | 401 (查看氨基酸序列) |
Transcript Variant: | This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. |
人 ISPD (NM_001101426) cDNA克隆 | transcript variant 1 |
人 ISPD (NM_001101417) cDNA克隆 | transcript variant 2 |
This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]